CASE REPORT

Bagcilar Med Bull 2019;4(1):53-55 DOI:­ 10.4274/BMB.galenos.2019.28989

Anesthesia Experience in a Patient with Congenita Konjenital Miyotonili Bir Hastadaki Anestezi Deneyimimiz

Yeşim Cokay Abut, Serkan Şimşek, Seher Köse, Şenay Kırgezen, Kübra Bolat, Veysel Erden

University of Health Sciences, İstanbul Training and Research Hospital, Clinic of Anesthesia and Reanimation, İstanbul, Turkey

Abstract Öz

Myotonia congenita (MC) was first described as a Myotoni konjenita (MC), Thomsen tarafından, 1876 yılında, iskelet disorder by Thomsen in 1876. As a result of the mutation of the chloride kaslarında ortaya çıkan bir hastalık olarak tanımlanmıştır. On yedinci channel gene (CLCN1), which is on the 17th chromosome, patients suffer kromozomda yer alan klor kanalı geninin (CLCN1) bir mutasyonu from muscle contractility and fatigue. may occur sonucunda, hastalarda kas kontraksiyonları ve yorgunluk ortaya çıkar. in these patients in anesthesia. We presented our anesthesia experience Bu hastalarda anestezi altında malin hipertermi gelişebilir. Aşağıda bir in a patient who suffers from MC in this article. MC hastasıyla ilgili olarak yaşadığımız anestezi deneyimini paylaşmak Keywords: , malignant hyperthermia, anesthesia istiyoruz. Anahtar kelimeler: Myotoni konjenita, malin hipertermi, anestezi

Introduction Case Report Myotonia congenita (MC) was first described as a skeletal A 54-year-old male patient (American Society muscle disorder by Thomsen in 1876. As a result of the Anesthesiologists 2, body mass index: 24) with right upper mutation of the gene (CLCN1), which quadrant abdominal pain, nausea and vomiting was admitted to a general surgery clinic for cholecystectomy. is on the 17th chromosome, patients suffer from muscle The patient was diagnosed with MC at the age of 16 contractility and fatigue. Autosomal dominance and with complaints of fatigue. Since then he was followed autosomal recessive heredity may present in this disease up by department with oral treatment of (1,2) The prevalence of MC is 1/100000 all over the world carbamazepin 200 mg per day. There was no family (3). In this disease, , hypertrophy history about MC or malignant hyperthermia and no and contracture are present without muscle weakness. previous anesthetic exposure. There were no symptoms Dysphagia, aspiration and cardiomyopathy are frequent of muscle weakness or rigidity in his physical exam, but symptoms. The most important complication is malignant intubation difficulty signs (Mallampati 3, oral cavity opening less than 2.5 cm) were present. Thyromenthal hyperthermia in this patients. and stermomenthal distance normal, head extantion is We presented our anesthesia experience in a patient who not restricted. Neurology department recommended suffer from MC in this article. that anesthesiology department must be prepared for

Address for Correspondence: Yesim Cokay Abut, University of Health Sciences, İstanbul Training and Research Hospital, Clinic of Anesthesia and Reanimation, İstanbul, Turkey E-mail: [email protected] ORCID ID: orcid.org/0000-0001-8763-605X Received: 01.02.2019 Accepted: 02.04.2019 Cite this article as: Cokay Abut Y, Şimşek S, Köse S, Şenay Kırgezen, Bolat K, Erden V. Anesthesia Experience in a Patient with Myotonia Congenita. Bagcilar Med Bull 2019;4(2):53-55 ©Copyright 2019 by the Health Sciences University, Bagcilar Training and Research Hospital Bagcilar Medical Bulletin published by Galenos Publishing House.

53 Cokay Abut et al. Bagcilar Medical Bulletin, Anesthesia and Myotonia Congenita Volume 4, Number 2, June 2019 malign hyperthermia during anesthesia. They pointed explained by membrane stabilization by reducing post- out that all precautions related with malign hyperthermia tetanic potentials as to be in our patient (5). (especially dantrolene sodium) should be provided In another type of myotonia is named by Becker, lower and anesthesiology department should be alert that extremities are mainly affected. In this form, symptoms are postoperative recovery period of the patient could be more severe than to be in the Thomsen type (6). much longer than the normal patients. In pulmonary and neuromuscular diseases such as MCs, Before the operation, anesthesia machine was flushed regional anesthesia should be preferred instead of general with 15/L/min (O ) about 20 minute. Respiratory circuit, 2 anesthesia. If general anesthesia is performed, short-acting soda lime and filter were changed. Any premedication drugs such as propofol and remifentanil can be used as to was not applied to the patient. Electrocardiogram (ECG), be in our patient (7). noninvasive blood pressure, (SpO2), (EtCO2) and esophageal temperature were monitorized. In the induction period, It should also be kept in mind that masseter muscle 200 mg propofol and 200 mcg fentanyl were injected to spasm may develop during the induction of anesthesia in the patient. He was intubated with video-laryngoscope myotonic diseases (8). C-mac D blade and intubation stylet without administering When the inhalation anesthetics were used, shivering may any muscle relaxant drug. Maintenance of anesthesia was occur, and myotonia may increase (9).We administered provided with total intravenous anesthesia (TIVA) (propofol TIVA with remifentanil and propofol, instead of inhalation and remifentanil), and patient was ventilated with 6 L/min anesthetics. In our anesthetic plan, we did not prefer to 50% oxygen/air mixture. During the operation, 1000 mL use muscle relaxants. We chose intravenous anesthetic isotonic saline was infused. drugs, especially narcotic analgesics for intubation and In the operation period patient vital parameters and maintenance of anesthesia, because shivering might not be hemodynamic status were stable and esophageal observed with opioid analgesic agents. temperature was 35.9-36.2 °C, (ETCO2) values were 32-35 This type neuromuscular diseases can cause malign mmHg. During the operation blood gas analysis values were hyperthermia during anesthesia because of increased within normal limits (Ph: 7.4, PCO2: 38, P02: 184, lactate: muscle activity (10). We took some precautions against 0,8, K: 3,4). For the postoperative pain control, tramadol possibility of malign hyperthermia (11). We kept ready HCl 100 mg was administered. dantrolene sodium in the operation theatre. With the help Operation was finished after 90 minutes. But spontanous of Medical Crisis Center in İstanbul, we achieved the drug ventilation was not achieved. The patient was transferred from another Training and Research Hospital. For our to the intensive care unit (ICU), because of the prolonged safety precautions, we flushed the anesthetic machine recovery time. After 3 hours in the ICU, patient was self- before the operation, we changed the ventilation circuits, extubated. The patient was discharged to the general soda lime and filter, and we chose the anesthetic drugs that surgery ward without any sequel and with full recovery on did not trigger malign hyperthermia. the 2nd day of the operation. Because, pain could be induced muscle rigidity, postoperative pain control is very important in these Discussion patients (12,13). Therefore, we administered tramadol intravenous intraoperative and postoperative period to our MC first described by A. J. Thomsen in 1876 in his own family. patient. Therefore, this autosomal dominate myotonia is named as Thomsen. It begins at the childhood and affects the upper It was reported in the literature that cold environment, extremities. Temporary muscle rigidity diminishes with tremors, hyperkalemia, and mechanical or electrical rest. The prognosis of this disease is good (4). stimulation may trigger myotonia in these patients, and acidosis may occur (14,15,16,17). For this reason, arterial In our patient similar symptoms (fatigue without muscle blood gas analysis was followed and normothermia was weakness, muscle rigidity which diminishes with rest and provided by heat monitoring in our patient. Thanks to these responds medical treatment) were present. The disorder precautions, acidic acidosis was not observed. had been diagnosed at 16 years old and had responded well to drug therapy with . The efficacy Prior to anesthesia of patients with CM, preoperative of carbamazepine treatment in the literature has been evaluation, laboratory tests, relevant consultations,

54 Bagcilar Medical Bulletin, Cokay Abut et al. Volume 4, Number 2, June 2019 Anesthesia and Myotonia Congenita anesthetic drugs to be used, normothermia and ICU 5. Savitha MR, Krishnamurthy B, Hyderi A, Farhan-Ul-Haque, follow-up in postoperative period are also important. If Ramachandra NB. Myotonia congenita--a successful response to carbamazepine. Ind J Pediatr 2006;73:431-433. anesthesiologyst can’t obtain dantrolene natrium, TIVA 6. Heatwole CR, Moxley RT. The nondystrophic myotonias. could be a safe solution with the precautions that were Neurotherapeutics 2007;4:238-251. present above. 7. England DE: Mutant sodium channels, myotonia and propofol, Muscle Nerve 2001;24:713-715. Ethics 8. Looi I, Bakar A , Lim CH, Khoo TH, Samuel PE. Anaesthetists’ Informed Consent: Informed consent from patients. nightmare: masseter spasm after ınduction in an undiagnosed case of myotonia congenita. Med J Malaysia 2008;63:423-425. Peer-review: Internally and externally peer-reviewed. 9. Vaughan MS, Vaughan RW, Cork RC. Hypothermia in adults: Authorship Contributions relationship of age, anesthesia and shivering to rewarming. Anesth Analg 1981;60:746-751. Concept: Y.C.A., Design: S.Ş., Y.C.A., Ş.K. Data Collection or 10. Heimann-Patterson T, Martino C, Rosenberg H, Fletcher JE, Processing: S.Ş., S.K., K.B., Analysis or Interpretation: V.E., Tahmoush AJ. Malignant hyperthermia in myotonia congenita. Literature Search: S.Ş., S.K., K.B., Writing: S.Ş., Y.C.A., Ş.K. Neurology 1988;38:810-812.

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